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  Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate

Mangold, E., Reutter, H., Leon-Cachon, R. B., Ludwig, K. U., Herms, S., Chacon-Camacho, O., et al. (2012). Evaluating SKI as a candidate gene for non-syndromic cleft lip with or without cleft palate. European Journal of Oral Science, 120(5), 373-377. doi:10.1111/j.1600-0722.2012.00991.x.

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Item Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC78-2 Version Permalink: http://hdl.handle.net/11858/00-001M-0000-000E-EC79-F
Genre: Journal Article

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 Creators:
Mangold, E., Author
Reutter, H., Author
Leon-Cachon, R. B., Author
Ludwig, K. U., Author
Herms, S., Author
Chacon-Camacho, O., Author
Ortiz-Lopez, R., Author
Paredes-Zenteno, M., Author
Arizpe-Cantu, A., Author
Munoz-Jimenez, S. G., Author
Nowak, S., Author
Kramer, F. J., Author
Wienker, T. F.1, 2, Author              
Nothen, M. M., Author
Knapp, M., Author
Rojas-Martinez, A., Author
Affiliations:
1Clinical Genetics (Thomas F. Wienker), Dept. of Human Molecular Genetics (Head: Hans-Hilger Ropers), Max Planck Institute for Molecular Genetics, Max Planck Society, Berlin, Germany, ou_1479643              
2Institute for Medical Biometry, Informatics and Epidemiology, University of Bonn, Bonn, Germany, ou_persistent22              

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Free keywords: association study; case–control design; Native American population; orofacial clefting; v-ski sarcoma viral oncogene homolog
 Abstract: Non-syndromic cleft lip with or without cleft palate (NSCL/P) is one of the most common of all congenital malformations and has a multifactorial etiology. Findings in mice suggest that the v-ski sarcoma viral oncogene homolog (SKI) gene is a candidate gene for orofacial clefting. In humans, a significant association between rs2843159 within SKI and NSCL/P has been reported in patients from the Philippines and South America. In the South American patients, the association was driven by the subgroup of patients with non-syndromic cleft lip only (NSCLO). Here we investigated the association with rs2843159 in a Mayan Mesoamerican population (172 NSCL/P patients and 366 controls). In addition, we analyzed the phenotypic subgroups NSCLO and non-syndromic cleft of lip and palate (NSCLP). A trend towards association between rs2843159 and NSCL/P was observed in the Mayan cohort (P = 0.097), and we found a stronger association in the NSCLP subgroup (P = 0.072) despite a limited sample size. To investigate whether other common variants within the SKI gene contribute to NSCL/P susceptibility in European and Asian populations, we also analyzed genotypic data from two recent genome-wide association studies using set-based statistical approaches. These analyses detected a trend toward association in the European population. Our data provide limited support for the hypothesis that common SKI variants are susceptibility factors for NSCL/P.

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Language(s): eng - English
 Dates: 2012-04-242012-10
 Publication Status: Published in print
 Pages: -
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 Table of Contents: -
 Rev. Method: Peer
 Identifiers: DOI: 10.1111/j.1600-0722.2012.00991.x
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Title: European Journal of Oral Science
Source Genre: Journal
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Publ. Info: -
Pages: - Volume / Issue: 120 (5) Sequence Number: - Start / End Page: 373 - 377 Identifier: ISSN: 1600-0722